Laurence Heidet

9PUBLICATIONS
13CO-AUTHORS
Neurology and neuromuscular diseasesFoetal development and medicineMolecular evolutionGenome structure and regulationGene expression (incl. microarray and other genome-wide approaches)
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Publications (9)

|Dec 04, 2025
Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.

Friederike Petzold, Cécile Jeanpierre, Xiaoyi Chen

|May 14, 2025
Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Luisa Marsili, Matthieu Mantecon, Christelle Arrondel

|Dec 09, 2024
Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.

Hassan Saei, Cécile Masson, Vincent Morinière

|Jun 28, 2024
HDR syndrome: Large cohort and systematic review.

Nicolas Rive Le Gouard, Valentin Lafond-Rive, Laurence Jonard

|Jan 27, 2023
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

Marie Dirix, Olivier Gribouval, Christelle Arrondel

|Sep 11, 2022
Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology.

Sara Gómez-Conde, Olivier Dunand, Aurélie Hummel

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Frequent Collaborators

2 joint publications

Guillaume Dorval

1 joint publications

Nicolas Rive Le Gouard

1 joint publications

Margaux Serey Gaut

1 joint publications

Sandrine Marlin